Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT1430001:Ap1m2'

499878

Institutional Source

Beutler Lab

Gene Symbol

Ap1m2

Ensembl Gene

ENSMUSG00000003309

Gene Name

adaptor protein complex AP-1, mu 2 subunit

Synonyms

D9Ertd818e, mu1B, [m]1B

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

PIT1430001 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

21206753-21223617 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21209548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 376 (P376L)

Ref Sequence

ENSEMBL: ENSMUSP00000111093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003397] [ENSMUST00000115433] [ENSMUST00000213250] [ENSMUST00000213762]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000003397
AA Change: P374L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000003397
Gene: ENSMUSG00000003309
AA Change: P374L

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	2	141	7.3e-9	PFAM
Pfam:Adap_comp_sub	157	422	7.3e-93	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115433
AA Change: P376L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111093
Gene: ENSMUSG00000003309
AA Change: P376L

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	2	141	7.4e-9	PFAM
Pfam:Adap_comp_sub	157	424	4.7e-95	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213483

Predicted Effect

probably benign
Transcript: ENSMUST00000213762

Meta Mutation Damage Score

0.6920

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (136/137)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the heterotetrameric adaptor-related protein comlex 1 (AP-1), which belongs to the adaptor complexes medium subunits family. This protein is capable of interacting with tyrosine-based sorting signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous null mice show small intestine crypt hyperplasia and villous dysplasia due to altered polarity and hyperproliferation of epithelial cells, exhibit spontaneous chronic colitis due to epithelial immune dysfunction, and develop a digestive disorder that causes malnutrition, growth retardation and early death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 139 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,207,160 (GRCm39)	I524F	possibly damaging	Het
4930511M06Rik	T	C	18: 57,517,241 (GRCm39)		probably benign	Het
9330159F19Rik	T	A	10: 29,100,711 (GRCm39)	N361K	probably damaging	Het
Adgra2	A	G	8: 27,604,216 (GRCm39)	M469V	possibly damaging	Het
Akap9	A	G	5: 4,079,849 (GRCm39)	D1867G	probably damaging	Het
Ankrd17	T	C	5: 90,400,832 (GRCm39)	T1687A	possibly damaging	Het
Bicc1	A	G	10: 70,793,511 (GRCm39)	S196P	possibly damaging	Het
Cacnb2	C	T	2: 14,976,412 (GRCm39)	R228*	probably null	Het
Ccdc43	A	G	11: 102,582,976 (GRCm39)	S83P	probably damaging	Het
Cdc42bpg	T	A	19: 6,372,582 (GRCm39)		probably null	Het
Cdh16	C	A	8: 105,344,271 (GRCm39)	M89I	probably benign	Het
Cecr2	A	C	6: 120,735,440 (GRCm39)	H892P	probably benign	Het
Chd5	T	A	4: 152,455,094 (GRCm39)	S859T	probably damaging	Het
Chrd	G	A	16: 20,557,748 (GRCm39)		probably null	Het
Chrna2	T	A	14: 66,387,186 (GRCm39)	L444Q	probably benign	Het
Ckap4	A	G	10: 84,363,630 (GRCm39)	S478P	probably damaging	Het
Cldn4	A	T	5: 134,975,514 (GRCm39)	M29K	possibly damaging	Het
Clpb	T	C	7: 101,435,926 (GRCm39)	V615A	possibly damaging	Het
Cyb5r4	G	A	9: 86,920,791 (GRCm39)	G142E	probably benign	Het
Cyp1a1	A	G	9: 57,608,194 (GRCm39)	Y274C	probably benign	Het
D2hgdh	T	C	1: 93,754,001 (GRCm39)		probably benign	Het
Dgkh	T	A	14: 78,818,953 (GRCm39)	E919V	probably damaging	Het
Dnah1	A	G	14: 30,984,537 (GRCm39)	Y3916H	probably damaging	Het
Dpp10	A	G	1: 123,268,911 (GRCm39)		probably benign	Het
Dync2i2	T	C	2: 29,922,147 (GRCm39)	Y438C	probably damaging	Het
Egfr	A	G	11: 16,860,214 (GRCm39)	T1043A	probably benign	Het
Elp5	T	G	11: 69,857,935 (GRCm39)		probably null	Het
Emilin3	A	T	2: 160,750,402 (GRCm39)	M449K	possibly damaging	Het
Epb41l4a	T	G	18: 33,930,400 (GRCm39)	T686P	probably damaging	Het
Eppk1	A	G	15: 76,105,236 (GRCm38)	C2482R	probably benign	Het
Eps8l3	T	C	3: 107,792,183 (GRCm39)	L370P	probably damaging	Het
Erbin	A	T	13: 103,996,017 (GRCm39)	S228R	probably damaging	Het
Fam149a	C	T	8: 45,804,743 (GRCm39)	E280K	probably benign	Het
Fam78b	T	C	1: 166,829,313 (GRCm39)	I60T	probably benign	Het
Fank1	A	T	7: 133,478,529 (GRCm39)	R197*	probably null	Het
Fbxo21	C	T	5: 118,115,931 (GRCm39)	S83F	possibly damaging	Het
Fbxo4	G	C	15: 4,008,782 (GRCm39)	T42R	probably benign	Het
Fhad1	C	G	4: 141,637,060 (GRCm39)	E1135D	probably damaging	Het
Fmo1	T	A	1: 162,657,622 (GRCm39)	E506D	probably benign	Het
Glipr1l2	A	T	10: 111,942,745 (GRCm39)	T231S	probably benign	Het
Gm11651	C	G	11: 105,863,917 (GRCm39)		probably benign	Het
Gm16043	A	G	6: 8,426,969 (GRCm39)		probably null	Het
Gm572	T	G	4: 148,755,850 (GRCm39)	W389G	unknown	Het
Gpc6	G	A	14: 118,188,594 (GRCm39)	W409*	probably null	Het
Gpr155	T	C	2: 73,200,482 (GRCm39)	T342A	probably benign	Het
Hcn4	A	C	9: 58,766,833 (GRCm39)	H798P	unknown	Het
Herc2	T	C	7: 55,876,702 (GRCm39)	S4513P	probably damaging	Het
Hmcn1	G	A	1: 150,684,488 (GRCm39)	R361C	probably benign	Het
Hoxa4	G	T	6: 52,168,199 (GRCm39)	P157Q	possibly damaging	Het
Ift122	A	C	6: 115,902,705 (GRCm39)		probably benign	Het
Igfbpl1	G	A	4: 45,826,756 (GRCm39)	S13L	unknown	Het
Igsf10	T	C	3: 59,235,579 (GRCm39)	D1534G	probably benign	Het
Il1rap	T	G	16: 26,529,343 (GRCm39)	L339V	possibly damaging	Het
Irf2bpl	C	T	12: 86,930,229 (GRCm39)	R148H	possibly damaging	Het
Ivns1abp	A	T	1: 151,237,356 (GRCm39)	R58W	probably damaging	Het
Kcnq5	C	T	1: 21,605,405 (GRCm39)	V167M	probably damaging	Het
Lrrcc1	G	A	3: 14,610,656 (GRCm39)	C337Y	probably damaging	Het
Lrriq3	A	G	3: 154,804,507 (GRCm39)	I56V	probably benign	Het
Masp1	C	A	16: 23,332,694 (GRCm39)	S47I	probably damaging	Het
Mcm7	A	T	5: 138,165,708 (GRCm39)		probably benign	Het
Mdm2	G	T	10: 117,530,840 (GRCm39)	S210R	probably damaging	Het
Mical1	A	G	10: 41,359,492 (GRCm39)	R500G	possibly damaging	Het
Mtarc1	T	G	1: 184,539,246 (GRCm39)	T37P	probably benign	Het
Myc	A	C	15: 61,859,542 (GRCm39)	T73P	probably damaging	Het
Myh15	G	A	16: 49,017,254 (GRCm39)		probably null	Het
Myh4	A	G	11: 67,149,658 (GRCm39)	M1768V	probably benign	Het
Nap1l1	T	C	10: 111,322,597 (GRCm39)	Y66H	probably damaging	Het
Ncoa1	C	T	12: 4,373,005 (GRCm39)	R132K	probably benign	Het
Nfatc3	C	T	8: 106,786,605 (GRCm39)	S28F	possibly damaging	Het
Nhlrc3	T	A	3: 53,361,050 (GRCm39)	K235M	probably damaging	Het
Nrk	G	A	X: 137,879,463 (GRCm39)	E757K	probably damaging	Het
Obsl1	G	A	1: 75,482,811 (GRCm39)	P20S	probably damaging	Het
P2rx7	C	T	5: 122,819,279 (GRCm39)	A567V	probably damaging	Het
Pate9	A	T	9: 36,446,295 (GRCm39)	L39*	probably null	Het
Pcdhb15	G	A	18: 37,608,724 (GRCm39)	R652H	probably benign	Het
Pcdhga4	T	C	18: 37,819,267 (GRCm39)	V272A	probably benign	Het
Pcdhgb1	T	G	18: 37,814,472 (GRCm39)	V321G	probably damaging	Het
Pde2a	C	G	7: 101,100,684 (GRCm39)		probably benign	Het
Pdhb	C	T	14: 8,170,425 (GRCm38)	E109K	probably damaging	Het
Pkd1	C	A	17: 24,788,485 (GRCm39)	L748M	probably damaging	Het
Pkd2	A	T	5: 104,607,654 (GRCm39)	E51V	probably damaging	Het
Pkdrej	A	G	15: 85,705,493 (GRCm39)	Y148H	probably damaging	Het
Polr3gl	C	G	3: 96,488,228 (GRCm39)		probably benign	Het
Ppfia1	A	T	7: 144,052,073 (GRCm39)	L882Q	probably damaging	Het
Ppp4r3b	G	T	11: 29,159,434 (GRCm39)	R596L	probably benign	Het
Ppp6r3	G	A	19: 3,521,059 (GRCm39)	Q85*	probably null	Het
Prss8	A	G	7: 127,521,424 (GRCm39)		probably benign	Het
Qng1	T	A	13: 58,532,827 (GRCm39)	K48*	probably null	Het
Rab22a	A	G	2: 173,536,963 (GRCm39)	I87V	probably benign	Het
Rev1	A	C	1: 38,095,337 (GRCm39)		probably benign	Het
Rnase13	A	G	14: 52,159,987 (GRCm39)	Y51H	probably damaging	Het
Rnf26	T	C	9: 44,023,942 (GRCm39)	H102R	probably damaging	Het
Rnf5	T	C	17: 34,822,341 (GRCm39)	E36G	probably damaging	Het
Rplp1	T	G	9: 61,821,658 (GRCm39)	D18A	probably benign	Het
Rrs1	C	A	1: 9,616,150 (GRCm39)	D134E	probably damaging	Het
Sec14l1	A	G	11: 117,034,629 (GRCm39)	Y166C	probably damaging	Het
Sec14l2	A	T	11: 4,059,209 (GRCm39)	Y153*	probably null	Het
Senp1	A	G	15: 97,982,870 (GRCm39)	L39P	probably damaging	Het
Senp2	T	A	16: 21,832,864 (GRCm39)		probably benign	Het
Sh3bp1	G	A	15: 78,798,224 (GRCm39)	A19T	probably benign	Het
Sis	G	A	3: 72,830,162 (GRCm39)	P1130S	probably damaging	Het
Slc16a12	C	T	19: 34,654,759 (GRCm39)	A95T	possibly damaging	Het
Slc22a4	A	G	11: 53,918,783 (GRCm39)	V7A	probably benign	Het
Slc35c2	C	T	2: 165,119,452 (GRCm39)	S296N	probably benign	Het
Slf1	A	G	13: 77,198,169 (GRCm39)		probably benign	Het
Slitrk6	A	T	14: 110,987,859 (GRCm39)	V616E	possibly damaging	Het
Smarca2	T	A	19: 26,626,493 (GRCm39)	M439K	probably benign	Het
Snx29	G	A	16: 11,221,488 (GRCm39)	A305T	probably benign	Het
Socs5	C	T	17: 87,441,044 (GRCm39)		probably benign	Het
Spata31d1a	G	T	13: 59,849,010 (GRCm39)	H1039Q	probably benign	Het
Srgap1	G	A	10: 121,732,658 (GRCm39)		probably benign	Het
Synj1	A	T	16: 90,761,396 (GRCm39)	I650N	probably damaging	Het
Tac4	A	C	11: 95,158,190 (GRCm39)		probably benign	Het
Tbck	A	C	3: 132,428,487 (GRCm39)	T281P	probably benign	Het
Tbx22	T	C	X: 106,720,611 (GRCm39)	L62P	probably damaging	Het
Terf2	G	C	8: 107,822,934 (GRCm39)	R70G	probably damaging	Het
Tfdp1	C	T	8: 13,422,526 (GRCm39)	P138S	probably benign	Het
Tigd2	T	C	6: 59,188,233 (GRCm39)	Y367H	probably damaging	Het
Tmprss15	A	T	16: 78,821,640 (GRCm39)		probably null	Het
Tmprss6	C	T	15: 78,324,827 (GRCm39)	G741D	probably damaging	Het
Tnrc6b	A	C	15: 80,813,387 (GRCm39)	T1715P	probably damaging	Het
Tpcn1	T	C	5: 120,686,388 (GRCm39)		probably benign	Het
Trappc2l	T	C	8: 123,339,874 (GRCm39)	S35P	probably damaging	Het
Trim63	T	C	4: 134,048,484 (GRCm39)		probably benign	Het
Trim66	G	T	7: 109,074,454 (GRCm39)	D602E	probably damaging	Het
Trp53bp1	G	A	2: 121,101,756 (GRCm39)	P2S	probably damaging	Het
Tspan14	A	G	14: 40,637,488 (GRCm39)	L100P	probably damaging	Het
Tspan15	C	T	10: 62,023,899 (GRCm39)	E260K	probably damaging	Het
Ubxn10	T	C	4: 138,448,199 (GRCm39)	D159G	probably benign	Het
Unc5a	T	G	13: 55,151,709 (GRCm39)	V713G	probably damaging	Het
Usp16	C	T	16: 87,270,020 (GRCm39)	A324V	probably damaging	Het
Uvssa	G	A	5: 33,559,914 (GRCm39)	R422Q	possibly damaging	Het
Wipf1	A	C	2: 73,267,946 (GRCm39)	F151V	probably damaging	Het
Xpo1	A	T	11: 23,226,437 (GRCm39)	K104N	possibly damaging	Het
Ybx3	T	C	6: 131,356,422 (GRCm39)	T150A	probably damaging	Het
Yju2	C	T	17: 56,271,479 (GRCm39)		probably benign	Het
Zap70	T	A	1: 36,818,250 (GRCm39)	S312R	possibly damaging	Het
Zfp534	T	G	4: 147,759,880 (GRCm39)	K263T	probably benign	Het
Zfp534	T	G	4: 147,759,917 (GRCm39)	N251H	probably benign	Het

Other mutations in Ap1m2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01811:Ap1m2	APN	9	21,210,600 (GRCm39)	missense	probably benign	0.01
IGL02320:Ap1m2	APN	9	21,210,620 (GRCm39)	nonsense	probably null
IGL02533:Ap1m2	APN	9	21,207,797 (GRCm39)	missense	probably damaging	1.00
IGL02806:Ap1m2	APN	9	21,216,979 (GRCm39)	missense	probably damaging	1.00
R0172:Ap1m2	UTSW	9	21,209,628 (GRCm39)	splice site	probably null
R0498:Ap1m2	UTSW	9	21,207,129 (GRCm39)	makesense	probably null
R1272:Ap1m2	UTSW	9	21,217,006 (GRCm39)	missense	possibly damaging	0.85
R1424:Ap1m2	UTSW	9	21,209,500 (GRCm39)	missense	possibly damaging	0.95
R1747:Ap1m2	UTSW	9	21,216,982 (GRCm39)	missense	probably damaging	1.00
R4477:Ap1m2	UTSW	9	21,209,509 (GRCm39)	missense	probably benign	0.31
R4478:Ap1m2	UTSW	9	21,209,509 (GRCm39)	missense	probably benign	0.31
R4573:Ap1m2	UTSW	9	21,217,054 (GRCm39)	missense	probably damaging	1.00
R4702:Ap1m2	UTSW	9	21,209,591 (GRCm39)	missense	probably benign	0.24
R4860:Ap1m2	UTSW	9	21,220,970 (GRCm39)	missense	probably benign
R4860:Ap1m2	UTSW	9	21,220,970 (GRCm39)	missense	probably benign
R5285:Ap1m2	UTSW	9	21,216,933 (GRCm39)	nonsense	probably null
R6131:Ap1m2	UTSW	9	21,207,797 (GRCm39)	missense	probably damaging	1.00
R6191:Ap1m2	UTSW	9	21,210,601 (GRCm39)	missense	probably benign	0.02
R7262:Ap1m2	UTSW	9	21,213,762 (GRCm39)	missense	possibly damaging	0.49
R9169:Ap1m2	UTSW	9	21,223,523 (GRCm39)	missense	probably benign	0.04
R9398:Ap1m2	UTSW	9	21,216,935 (GRCm39)	missense	probably damaging	1.00
R9561:Ap1m2	UTSW	9	21,209,524 (GRCm39)	missense	probably damaging	1.00
R9664:Ap1m2	UTSW	9	21,216,983 (GRCm39)	missense	probably benign	0.00
Z1176:Ap1m2	UTSW	9	21,209,552 (GRCm39)	nonsense	probably null

Predicted Primers

Posted On

2017-11-21